The Alpers Awareness Foundation

Mitochondrial disease management through phytochemical interventions

Mitochondrial disease management through phytochemical interventions - Molecular and Cellular Biochemistry Mitochondrial diseases are a diverse group of disorders caused by dysfunction in mitochondria, the energy-generating organelles of cells. These disorders result from mutations in either nuclear or mitochondrial DNA and can be classified as primary (genetic origin) or secondary (environmentally induc...

Very promising results of an oral treatment for Alpers! The 6 young patients with Alpers are: #1 (age 8 years), #2 (age 2 years), #4 (age 6 years), #7 (age 11 years), #9 (age 2 years), #10 (age 2 years). After the 6-month trial, their results are noted in Table 3. All except #10 showed marked improvements. This could be a very viable candidate for treatment.

Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single-arm, phase 2 trial

www.sciencedirect.com

A new book, "Rare Genetic Disorders" features a chapter on "Current Insights into the Potential of Gene Therapy to Treat Rare Mitochondrial Diseases".

Current Insights into the Potential of Gene Therapy to Treat Rare Mitochondrial Diseases Mitochondrial disorders represent a rare category of diseases that arise from abnormalities in essential proteins necessary for the proper functioning and maintenance of mitochondria. These mutations disrupt the proteins and activities associated with mitochondria,...

Zebrafish and Alpers?

Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment - Cell Death & Disease The human mitochondrial DNA polymerase gamma is a holoenzyme, involved in mitochondrial DNA (mtDNA) replication and maintenance, composed of a catalytic subunit (POLG) and a dimeric accessory subunit (POLG2) conferring processivity. Mutations in POLG or POLG2 cause POLG-related diseases in humans, l...

Another detailed study on a Ketogenic Diet.

Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease

Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease Mitochondrial diseases (MDs) are a heterogeneous group of disorders resulting from abnormal mitochondrial function. Currently, there is no causal treatment for MDs. The aim of the study was to assess the effectiveness and safety of the ketogenic diet (KD) in patients with MD and to analyse selected....